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1.
Macromolecules ; 52(23): 9220-9231, 2019 Dec 10.
Artigo em Inglês | MEDLINE | ID: mdl-31866693

RESUMO

In this study, the effect of different process conditions on the material properties of a single UV-cured layer of methacrylate resin, typically used in the stereolithography (SLA) process, is assessed. This simplified approach of the SLA process gives the opportunity to study the link between process conditions and mechanical properties without complicated interactions between different layers. Fourier-transform infrared analysis is performed to study the effect of light intensity, curing time, and initiator concentration on the monomer conversion. A model is developed based on the reaction kinetics of photopolymerization that describes and predicts the experimental data. The effect of curing time and light intensity on the glass-transition temperature is studied. A unique relation exists between conversion and glass-transition temperature, independent of the light intensity and curing time. Tensile tests on UV-cured resin show an increase in yield stress with increasing curing time and a linear relation between glass-transition temperature and yield stress. However, a lower light intensity leads to a different network structure characterized by a lower yield stress and glass-transition temperature. The correlations between process conditions and the mechanical properties of UV-cured methacrylate systems are established to better understand the role of the processing parameters involved in the SLA process.

2.
Clin Genet ; 91(4): 536-544, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27485256

RESUMO

Germline mutations in genes encoding subunits of succinate dehydrogenase (SDH) are associated with hereditary paraganglioma and pheochromocytoma. Although most mutations in SDHB, SDHC and SDHD are intraexonic variants, large germline deletions may represent up to 10% of all variants but are rarely characterized at the DNA sequence level. Additional phenotypic effects resulting from deletions that affect neighboring genes are also not understood. We performed multiplex ligation-dependent probe amplification, followed by a simple long-range PCR 'chromosome walking' protocol to characterize breakpoints in 20 SDHx-linked paraganglioma-pheochromocytoma patients. Breakpoints were confirmed by conventional PCR and Sanger sequencing. Heterozygous germline deletions of up to 104 kb in size were identified in SDHB, SDHC, SDHD and flanking genes in 20 paraganglioma-pheochromocytoma patients. The exact breakpoint could be determined in 16 paraganglioma-pheochromocytoma patients of which 15 were novel deletions. In six patients proximal genes were also deleted, including PADI2, MFAP2, ATP13A2 (PARK9), CFAP126, TIMM8B and C11orf57. These genes were either partially or completely deleted, but did not modify the phenotype. This study increases the number of known SDHx deletions by over 50% and demonstrates that a significant proportion of large gene deletions can be resolved at the nucleotide level using a simple and rapid method.


Assuntos
Proteínas de Membrana/genética , Paraganglioma/genética , Succinato Desidrogenase/genética , Sequência de Bases/genética , Pontos de Quebra do Cromossomo , Feminino , Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Heterozigoto , Humanos , Masculino , Paraganglioma/patologia , Deleção de Sequência/genética
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